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Agl Gene Detail
Summary
  • Symbol
    Agl
  • Name
    amylo-1,6-glucosidase, 4-alpha-glucanotransferase
  • Synonyms
    1110061O17Rik, 9430004C13Rik, 9630046L06Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1924809
    NCBI Gene: 77559
  • Alliance
    gene page
  • Transcription Start Sites
    18 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:116533648-116601815 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 50.47 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2062 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1924809
 protein coding gene Chr3:116533648-116601815 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027818
 protein coding gene Chr3:118671013-118740520 (-)
A/J MGP_AJ_G0027776
 protein coding gene Chr3:114769786-114832974 (-)
AKR/J MGP_AKRJ_G0027742
 protein coding gene Chr3:117678341-117745644 (-)
BALB/cJ MGP_BALBcJ_G0027788
 protein coding gene Chr3:114619236-114681926 (-)
C3H/HeJ MGP_C3HHeJ_G0027519
 protein coding gene Chr3:118044526-118118521 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028234
 protein coding gene Chr3:123011972-123085623 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025573
 protein coding gene Chr3:110460718-110524653 (-)
CAST/EiJ MGP_CASTEiJ_G0026975
 protein coding gene Chr3:117323514-117387936 (-)
CBA/J MGP_CBAJ_G0027494
 protein coding gene Chr3:127208632-127279252 (-)
DBA/2J MGP_DBA2J_G0027635
 protein coding gene Chr3:114009362-114075928 (-)
FVB/NJ MGP_FVBNJ_G0027603
 protein coding gene Chr3:111641955-111711651 (-)
LP/J MGP_LPJ_G0027745
 protein coding gene Chr3:120195045-120270865 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0027633
 protein coding gene Chr3:134585208-134654749 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028290
 protein coding gene Chr3:117216471-117283803 (-)
PWK/PhJ MGP_PWKPhJ_G0026701
 protein coding gene Chr3:113650633-113713060 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026523
 protein coding gene Chr3:115231765-115293986 (-)
WSB/EiJ MGP_WSBEiJ_G0027055
 protein coding gene Chr3:117895886-117975223 (-)



Homology
more
  • Human Ortholog
    AGL, amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AGL, amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase
  • Synonyms
    GDE
  • Links
    NCBI Gene ID: 178
    neXtProt AC: NX_P35573
    UniProt: P35573

  • Chr Location
    1p21.2; chr1:99849258-99924023 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Agl mouse models; 1 with human AGL associations

Human Disease Mouse Models
      
IDs
 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    40 phenotypes from 3 alleles in 3 genetic backgrounds
    25 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous inactivation of this gene leads to hypoglycemia, altered blood biochemistry, severe hepatomegaly, glycogen accumulation in the liver, heart, skeletal muscle and other tissues, motor impairment, and premature death.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    32
  • GO References
    8
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    867
  • Tissues
    115
  • cDNA Data
    61
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 77559 NCBI Gene Model | MGI Sequence Detail 68168 C57BL/6J ±  kb
    transcript NM_001081326 RefSeq | MGI Sequence Detail 9625 Not Specified  
    polypeptide NP_001074795 RefSeq | MGI Sequence Detail 1532 Not Specified  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      7 Sequences
    • EC
      2.4.1.25, 3.2.1.33
    • InterPro Domains
      IPR029436 Eukaryotic glycogen debranching enzyme, N-terminal domain
      IPR010401 Glycogen debranching enzyme
      IPR032788 Glycogen debranching enzyme, central domain
      IPR032790 Glycogen debranching enzyme, C-terminal
      IPR032792 Glycogen debranching enzyme, glucanotransferase domain
      IPR006421 Glycogen debranching enzyme, metazoa
      IPR017853 Glycoside hydrolase superfamily
      IPR012341 Six-hairpin glycosidase-like superfamily
      IPR008928 Six-hairpin glycosidase superfamily
    • GlyGen
      F8VPN4 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 66
      Genomic 2
      cDNA 61
      Primer pair 3

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:1916080, MGI:2139821, MGI:2140047, MGI:2442716
    References
    more
    • Summaries
      All 60
      Developmental Gene Expression 9
      Diseases 3
      Gene Ontology 8
      Phenotypes 25
    • Earliest
      J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    11/12/2024
    MGI 6.24     		The Jackson Laboratory